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FLASH GENE
Symbol PAH contributors: npt/mct - updated : 18-01-2011
HGNC name phenylalanine hydroxylase
HGNC id 8582
Corresponding disease
PKU phenylketonuria
Location 12q23.2      Physical location : 103.232.103 - 103.311.381
Synonym name amino acid hydroxylase
Synonym symbol(s) PKU, PKU1, PH
EC.number 1.14.16.1
DNA
TYPE functioning gene
STRUCTURE 79.28 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   enhancer
text structure liver-specific enhancer and binding sites both known to mediate cAMP signaling within the enhancer
MAPPING cloned Y linked Y status confirmed
Map cen - PAH - IGF1 - ASCL1 - NFYB - TRA1 - DAO ,NOS1 - qter
Authors Renault (94)
Physical map
SLC5A8 12q23.3 solute carrier family 5 (iodide transporter), member 8 DRIM 12q23 down-regulated in metastasis ARL1 12q23.3 ADP-ribosylation factor-like 1 SPIC 12q23.3 likely ortholog of mouse Spi-C transcription factor (Spi-1/PU.1 related) MYBPC1 12q22-q23 myosin binding protein C, slow type CHPT1 12q11 choline phosphotransferase 1 SYCP3 12q24.2-q24.3 synaptonemal complex protein 3 MGC4170 12q23.3 synaptonemal complex protein 3 LOC387880 12 similar to 10 KD HEAT SHOCK PROTEIN, MITOCHONDRIAL (HSP10) (10 KD CHAPERONIN) (CPN10) FLJ11259 12q23.3 hypothetical protein FLJ11259 LOC390353 12 similar to ribosomal protein L9 CGI-116 12q23.3 CGI-116 protein Nup37 12q23.3 nucleoporin Nup37 FLJ20641 12q23.3 hypothetical protein FLJ20641 PMCH 12q23.1 pro-melanin-concentrating hormone IGF1 12q23.1 insulin-like growth factor 1 (somatomedin C) PAH 12q23.1 phenylalanine hydroxylase ASCL1 12q23.1 achaete-scute complex-like 1 (Drosophila) FLJ25323 12q23.3 FLJ25323 protein STAB2 12q33.3 stabilin 2 TU12B1-TY 12q22-q23.1 TU12B1-TY protein LOC253724 12q23.3 hypothetical LOC253724 LOC283350 12q23.3 similar to cDNA sequence BC030307 TRA1 12q23.1 tumor rejection antigen (gp96) 1 LOC387881 12 LOC387881 TDG 12q22-24.1 thymine-DNA glycosylase LOC83468 12q gycosyltransferase HCF-2 12q23.3 host cell factor 2 NFYB 12q22-q23 nuclear transcription factor Y, beta LOC390354 12 similar to ribosomal protein L18a; 60S ribosomal protein L18a TXNRD1 12q23-q24 thioredoxin reductase 1 CHST11 12q23.2-q23.3 carbohydrate (chondroitin 4) sulfotransferase 11
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 2680 - 452 - 1992 1301187
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly Homo sapiens
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • from the N terminus a regulatory, a catalytic and a tetramerization domains
  • one ACT domain
  • one small ligand binding domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Pah
    Homologene
    FAMILY
  • biopterin-dependent aromatic aminoacid hydroxylase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • phenylalanine hydroxylase, iron containing enzyme
  • rate-limiting step in phenylalanine catabolism
  • liver-specific phenylalanine hydroxylase catalyzes the conversion of phenylalanine to tyrosine
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • natural cofactor of phenylalanine hydroxylase (PAH), tetrahydrobiopterin (BH4), regulates the enzyme activity as well as being essential in catalysis
  • protein
    cell & other
    REGULATION
    Other complexly regulated by its substrate L-Phenylalanine and its natural cofactor 6R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH(4))
    regulated by both arginine AA and exon 7 which is of great significance with regards to the structure and function of the PAH enzyme
    regulated by three main mechanisms, substrate (L-Phe) activation, pterin cofactor inhibition and phosphorylation of a single serine (Ser16) residue
    ASSOCIATED DISORDERS
    corresponding disease(s) PKU
    related resource Phenylalanine Hydroxylase Locus Database Home Page
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolism  
    ANIMAL & CELL MODELS